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DOID:0090143 - brachyolmia-amelogenesis imperfecta syndrome
Disease Ontology Definition:A syndrome characterized by skeletal dysplasia (broad ilia, elongated femoral necks with coxa valga, scoliosis), mild platyspondyly, short trunked short stature, and amelogenesis imperfecta that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the latent transforming growth factor beta binding protein 3 gene (LTBP3) on chromosome 11q13.
Synonyms: DASS, dental anomalies and short stature, platyspondyly with amelogenesis imperfecta, selective tooth agenesis 5, STHAG6
Xenbase Genes
:
ltbp3
| MONDO:0011018 - brachyolmia-amelogenesis imperfecta syndrome |
| MIM:601216 - DENTAL ANOMALIES AND SHORT STATURE; DASS |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)